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rs779748859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779748859(C;T)
Make rs779748859(T;T)
ReferenceGRCh38.p7 38.3/149
ChromosomeX
Position108187279
GeneCOL4A6
is asnp
is mentioned by
dbSNPrs779748859
dbSNP (classic)rs779748859
ClinGenrs779748859
ebirs779748859
HLIrs779748859
Exacrs779748859
Gnomadrs779748859
Varsomers779748859
LitVarrs779748859
Maprs779748859
PheGenIrs779748859
Biobankrs779748859
1000 genomesrs779748859
hgdprs779748859
ensemblrs779748859
geneviewrs779748859
scholarrs779748859
googlers779748859
pharmgkbrs779748859
gwascentralrs779748859
openSNPrs779748859
23andMers779748859
23andMe allrs779748859
SNPshotrs779748859
SNPdbers779748859
MSV3drs779748859
GWAS Ctlgrs779748859
Max Magnitude0
ClinVar
Risk rs779748859(T;T)
Alt rs779748859(T;T)
Reference Rs779748859(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene COL4A6
CLNDBN Deafness, X-linked 6
Reversed 0
HGVS NC_000023.10:g.107430509C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000088659.2,